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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1970 1
1971 9
1972 6
1973 4
1974 6
1975 3
1976 8
1977 7
1978 1
1979 5
1980 3
1981 6
1982 2
1983 5
1984 4
1985 6
1986 2
1987 3
1988 3
1989 4
1990 4
1991 4
1992 2
1993 6
1994 4
1995 1
1996 5
1997 4
1998 6
1999 1
2000 6
2001 5
2002 3
2003 8
2004 2
2005 3
2006 3
2007 2
2008 2
2009 3
2010 4
2011 2
2012 2
2013 4
2014 6
2015 4
2016 3
2017 1
2018 5
2019 4
2020 1
2021 2
2024 0

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193 results

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Page 1
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
Torres RJ, Puig JG. Torres RJ, et al. Orphanet J Rare Dis. 2007 Dec 8;2:48. doi: 10.1186/1750-1172-2-48. Orphanet J Rare Dis. 2007. PMID: 18067674 Free PMC article. Review.
Neurological manifestations include severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit, and self-injurious behaviour. The most severe forms are known as Lesch-Nyhan syndrome (patients are normal at birth and diagnosis can be a …
Neurological manifestations include severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit, and self-injurious …
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor symptoms (including hypotonia, spasticity, dystonia, and chorea), often accompanied by developmental delay. The primary etiology of a cereb …
Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor …
Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A. Sabus A, et al. Pharmacotherapy. 2019 Jun;39(6):645-664. doi: 10.1002/phar.2238. Epub 2019 Mar 27. Pharmacotherapy. 2019. PMID: 30793794 Free PMC article. Review.
Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis syndrome, Lesch-Nyhan disease, cri du chat syndrome, Prader-Willi syndrome, pervasive developmental disorders, fragile X sy …
Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis syndrome, L …
Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype.
Harris JC. Harris JC. Curr Opin Psychiatry. 2018 Mar;31(2):96-102. doi: 10.1097/YCO.0000000000000388. Curr Opin Psychiatry. 2018. PMID: 29227296 Review.
PURPOSE OF REVIEW: Lesch-Nyhan Syndrome (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that result in hyperuricemia, intellectual disability, a dystonic movement disorder, and compulsive self-injury with self-mutilation. ...SUMMARY: This …
PURPOSE OF REVIEW: Lesch-Nyhan Syndrome (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that resul …
Self-injurious behavior.
Huisman S, Mulder P, Kuijk J, Kerstholt M, van Eeghen A, Leenders A, van Balkom I, Oliver C, Piening S, Hennekam R. Huisman S, et al. Neurosci Biobehav Rev. 2018 Jan;84:483-491. doi: 10.1016/j.neubiorev.2017.02.027. Epub 2017 Jul 8. Neurosci Biobehav Rev. 2018. PMID: 28694012 Free article. Review.
We demonstrate that the prevalence of SIB in several well-known genetic intellectual disability syndromes is noticeably higher than in individuals with ID in general, and that characteristics such as age of onset and topographies differ widely across syndromes. Each syndrome …
We demonstrate that the prevalence of SIB in several well-known genetic intellectual disability syndromes is noticeably higher than in indiv …
The Lesch-Nyhan syndrome.
Nyhan WL. Nyhan WL. Annu Rev Med. 1973;24:41-60. doi: 10.1146/annurev.me.24.020173.000353. Annu Rev Med. 1973. PMID: 4575865 Review. No abstract available.
Disorders of purines and pyrimidines.
Kelley RE, Andersson HC. Kelley RE, et al. Handb Clin Neurol. 2014;120:827-38. doi: 10.1016/B978-0-7020-4087-0.00055-3. Handb Clin Neurol. 2014. PMID: 24365355 Review.
The most commonly cited disorder, in the neurologic realm, is Lesch-Nyhan syndrome which presumably reflects its distinctive feature of self-mutilation. Expansion of our knowledge with molecular genetic methodology has helped to better identify and characteri …
The most commonly cited disorder, in the neurologic realm, is Lesch-Nyhan syndrome which presumably reflects its distin …
MicroRNAs: tools of mechanistic insights and biological therapeutics discovery for the rare neurogenetic syndrome Lesch-Nyhan disease (LND).
Guibinga GH. Guibinga GH. Adv Genet. 2015;90:103-131. doi: 10.1016/bs.adgen.2015.06.001. Epub 2015 Jul 20. Adv Genet. 2015. PMID: 26296934 Review.
Also, their dysregulated pattern of expression is now well demonstrated in myriad diseases and pathogenic processes. In the current review, we highlight the role of miRNAs in Lesch-Nyhan disease (LND), a rare neurogenetic syndrome caused by mutations in the p …
Also, their dysregulated pattern of expression is now well demonstrated in myriad diseases and pathogenic processes. In the current review, …
Diagnosis and treatment of the Lesch-Nyhan syndrome.
Crawhall JC, Henderson JF, Kelley WN. Crawhall JC, et al. Pediatr Res. 1972 May;6(5):504-13. doi: 10.1203/00006450-197205000-00004. Pediatr Res. 1972. PMID: 4558815 Review. No abstract available.
A review of HPRT and its emerging role in cancer.
Townsend MH, Robison RA, O'Neill KL. Townsend MH, et al. Med Oncol. 2018 May 5;35(6):89. doi: 10.1007/s12032-018-1144-1. Med Oncol. 2018. PMID: 29730818 Review.
In addition to its use as a reporter gene, HPRT also has important functionality in the body in relation to purine regulation as demonstrated by Lesch-Nyhan patients whose lack of functional HPRT leads to significant purine overproduction and further neural complica …
In addition to its use as a reporter gene, HPRT also has important functionality in the body in relation to purine regulation as demonstrate …
193 results